Associated Papers
Homozygous deletion of MYADML2 in cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles.
Yıldız Bölükbaşı E et al.
Journal of Human Genetics, 2021
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.
Dimopoulou A et al.
Molecular Genetics and Metabolism, 2013
Mutations in PYCR1 gene in three families with autosomal recessive cutis laxa, type 2.
Scherrer DZ et al.
European Journal of Medical Genetics, 2013
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